广东汉族22个Y-STR基因座遗传多态性及遗传关系分析

Polymorphism of 22 Y-STR loci in Guangdong Han population and genetic relationship with 12 populations

调查了广东汉族群体22个Y-STR基因座的遗传多态性分布情况,探讨其群体遗传学及法医学应用价值。通过自行建立的两组Y-STR荧光标记复合扩增体系（Multiplex Ⅰ： DYS505,DYS533,DYS576,DYS588,DYS634,DYS643;Multiplex Ⅱ： DYS461,DYS481,DYS504,DYS508,DYS607）和应用进口Powerplex Y System（DYS19,DYS389Ⅰ/Ⅱ, DYS390,DYS391,DYS392,DYS393,DYS385,DYS437,DYS438,DYS439）,对广东汉族216名无关男性个体进行22个STR基因座的复合分型,用ABI310基因分析仪对扩增产物进行检测,统计22个Y-STR基因座的群体遗传学参数,并结合已公开发表的其他12个群体“扩展单倍型”的数据资料,分析广东汉族群体遗传距离和聚类关系。3组复合扩增系统均可成功进行分型,基因多样性GD值在0.3299（DYS634）～0.9425（DYS385）;22个Y-STR基因座共同构成的单倍型214种,单倍型多样性为0.9999。广东汉族和潮汕汉族的遗传距离最近（？0.0030）,与东北汉族的遗传距离最远（0.0195）。22个Y-STR基因座联合检测具有丰富的遗传多态性,对建立Y染色体STR数据库,研究群体遗传学和进行法医学应用有重要意义。

To investigate the genetic polymorphisms of 22 Y-chromosomal short tandem repeats（STR） loci in Guangdong Han population, and to evaluate their forensic application values and genetic relationships with 12 other populations. These Y-STR loci （DYS19, DYS389 1/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS461, DYS481, DYS504, DYS505, DYS508, DYS533, DYS576, DYS588, DYS607, DYS634, and DYS643） were analyzed in 216 unrelated healthy Guangdong Han individuals by three multiplex PCR systems including the PowerPlex Y System. Cluster analysis and phylogenic trees were applied to show the genetic distance among the populations. As a result, a total of 214 haplotypes were identified and the overall haplotype diversity for the 22 Y-STR loci was 0.9999. The gene diversity values （GD） for each locus ranged from 0.3299 （DYS634） to 0.9425 （DYS385）. Comparing with 12 other populations, the genetic distance between Guangdong and Chaoshan Han population was the smallest （--0.0030）, while that between Guangdong and Northeast Han Chinese was the largest （0.0195）. The phylogenetic tree was similar to the results of clustering analysis. Multiplex detection of the 22 Y-STR loci revealed a highly polymorphic genetic distribution, which would be very powerful for establishing a Y-STR database, for population genetics and forensic practice.